HDAC4 histone deacetylase 4
Gene ID: 9759, updated on 3-Apr-2024Gene type: protein coding
Also known as: HD4; AHO3; BDMR; HDACA; HA6116; HDAC-4; HDAC-A; NEDCHF; NEDCHID
- See all available tests in GTR for this gene
- Go to complete Gene record for HDAC4
- Go to Variation Viewer for HDAC4 variants
Summary
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chromosome 2q37 deletion syndrome | See labs |
| Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | See labs |
| Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. GeneReviews: Not available |
Genomic context
- Location:
- 2q37.3
- Sequence:
- Chromosome: 2; NC_000002.12 (239048168..239401649, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HDAC4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HDAC4 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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